Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818891 | SCV000959528 | uncertain significance | Epileptic encephalopathy | 2022-07-12 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 661467). This variant has not been reported in the literature in individuals affected with FASN-related conditions. This variant is present in population databases (rs373200316, gnomAD 0.01%). This sequence change affects codon 972 of the FASN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FASN protein. |